Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5234011C>A , CM000673.2:g.5234011C>A | GRCh38 |
| NC_000011.9:g.5255241C>A , CM000673.1:g.5255241C>A | GRCh37 |
| NC_000011.8:g.5211817C>A | NCBI36 |
| NG_000007.3:g.63605G>T | |
| NG_063112.2:g.14647G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000519.4:c.295G>T MANE Select | NP_000510.1:p.Val99Leu |
| ENST00000650601.1:c.295G>T MANE Select | ENSP00000497529.1:p.Val99Leu |
| NM_000519.3:c.295G>T | NP_000510.1:p.Val99Leu |
| ENST00000292901.7:c.295G>T | ENSP00000292901.3:p.Val99Leu |
| ENST00000380299.3:c.295G>T | ENSP00000369654.3:p.Val99Leu |
| ENST00000417377.1:c.92+331G>T | ENSP00000414741.1:n.92+331G>T |
| ENST00000429817.1:c.295G>T | ENSP00000393810.1:p.Val99Leu |
| ENST00000643122.1:c.295G>T | ENSP00000494708.1:p.Val99Leu |